CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

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Bibliographic Details
Title: CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
Authors: Nauth T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany., Renner S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Burkhalter MD; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany., Schüler H; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Saygi C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Händler K; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany., Siebels B; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Busch A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mair T; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Rickassel V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Deden S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hoffer K; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Olfe J; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and., Mir TS; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and., von Kodolitsch Y; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Girdauskas E; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany., Rybczynski M; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany., Kriegs M; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Voß H; Section Mass Spectrometry and Proteomics, Center for Diagnostics., Sauvigny T; Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Spielmann M; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.; Human Molecular Genetics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Krasemann S; Institute of Neuropathology and.; Core Facility for Experimental Histo-Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Demal TJ; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany., Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 07; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1558-8238
DOI:10.1172/JCI186287